1 Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre Department of Genetics, Post Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Brazil Children's Hospital of the Johannes-Gutenberg University, Langenbeckstraße 1, Mainz, Germany Shire Human Genetic Therapies, Clinical Research and Development, Cambridge, Massachusetts, USA Hospital for Sick Children, Toronto, Canada.